Working…
COVID-19 is an emerging, rapidly evolving situation.
Get the latest public health information from CDC: https://www.coronavirus.gov.

Get the latest research information from NIH: https://www.nih.gov/coronavirus.
ClinicalTrials.gov
ClinicalTrials.gov Menu
Trial record 1 of 1 for:    Familial Study of MPDs, Josef Prchal
Previous Study | Return to List | Next Study

Molecular Biology of Polycythemia and Thrombocytosis

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT00722527
Recruitment Status : Recruiting
First Posted : July 25, 2008
Last Update Posted : October 29, 2019
Sponsor:
Collaborator:
National Heart, Lung, and Blood Institute (NHLBI)
Information provided by (Responsible Party):
University of Utah

Tracking Information
First Submitted Date July 23, 2008
First Posted Date July 25, 2008
Last Update Posted Date October 29, 2019
Study Start Date July 2006
Estimated Primary Completion Date July 2020   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: October 8, 2009)
Identify the molecular defect of Polycythemic and Thrombocythemic disorders [ Time Frame: Weekly ]
Original Primary Outcome Measures
 (submitted: July 24, 2008)
Identify the molecular defect of a polycythemic disorder [ Time Frame: Weekly ]
Change History
Current Secondary Outcome Measures Not Provided
Original Secondary Outcome Measures
 (submitted: July 24, 2008)
Define disease causing lesions of the erythropoietin (EPO) and EPO receptor (EPOR) pathway, as well as test the hypothesis that the EPOR mutations can cause cardiovascular disease. [ Time Frame: Monthly ]
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title Molecular Biology of Polycythemia and Thrombocytosis
Official Title Molecular Biology of Polycythemia and Thrombocytosis
Brief Summary Our study is designed to characterize the clinical picture and genetic pattern of Polycythemia and Thrombocytosis. The purpose of this project is to find a gene and its mutation that causes these disorders. When this is accomplished, new therapies to control and eventually cure the disorder can be designed.
Detailed Description

Our hypothesis is that genes and their mutation are causative of certain types of polycythemia and thrombocytosis. These will be sought for by genetic and cell biology means. The purpose of the study is to identify the molecular defect of these disorders.

5-7 teaspoons of peripheral blood will be drawn on all study subjects. After DNA is obtained, linkage analysis and/or mutation analysis will be performed.

Study Type Observational
Study Design Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration Not Provided
Biospecimen Retention:   Samples With DNA
Description:
Whole blood
Sampling Method Non-Probability Sample
Study Population Subjects who have polycythemia and thrombocytosis will be included in the study.
Condition
  • Polycythemia
  • Thrombocytosis
Intervention Not Provided
Study Groups/Cohorts Affected Population
Subjects with an elevated hemoglobin concentration or an elevated platelet count
Publications *

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Recruiting
Estimated Enrollment
 (submitted: July 24, 2008)
200
Original Estimated Enrollment Same as current
Estimated Study Completion Date July 2020
Estimated Primary Completion Date July 2020   (Final data collection date for primary outcome measure)
Eligibility Criteria

Inclusion Criteria:

  1. Subjects with an elevated hemoglobin concentration (>18 in males and >16 in females)
  2. Subjects with an elevated platelet count (>450,000)

Exclusion Criteria:

  1. Subjects who have a known acquired cause of polycythemia and thrombocytosis
  2. Subjects with heart disease, left to right heart shunt or severe pulmonary disease
Sex/Gender
Sexes Eligible for Study: All
Ages Child, Adult, Older Adult
Accepts Healthy Volunteers No
Contacts
Contact: Josef T Prchal, MD 801-581-4220 josef.prchal@hsc.utah.edu
Contact: Kim Hickman, BS 801-581-3707 kimberly.hickman@hsc.utah.edu
Listed Location Countries United States
Removed Location Countries  
 
Administrative Information
NCT Number NCT00722527
Other Study ID Numbers 17665
5R01HL050077-13 ( U.S. NIH Grant/Contract )
Has Data Monitoring Committee No
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement Not Provided
Responsible Party University of Utah
Study Sponsor University of Utah
Collaborators National Heart, Lung, and Blood Institute (NHLBI)
Investigators
Principal Investigator: Josef T. Prchal, MD University of Utah
PRS Account University of Utah
Verification Date October 2019